Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Emel Çakar"'
Autor:
Nafiye Emel Çakar, Orhan Görükmez
Publikováno v:
Annals of Indian Academy of Neurology, Vol 24, Iss 3, Pp 372-378 (2021)
Objective: 3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is a rare metabolic disease of valine metabolism. Only 22 cases of HIBCH deficiency have been reported in the literature. Our algorithm could help in the diagnosis of this disease. Metho
Externí odkaz:
https://doaj.org/article/74db4053e6fb4c2795db2a21837fc712
Autor:
Hasan Ali Barman, Sevgi Özcan, Adem Atıcı, Caner Özgökçe, Ahmet Öztürk, Ayşegül Ezgi Kafalı, Nafiye Emel Çakar, Mustafa Emir Tavşanlı, Mehmet Küçük, Irfan Şahin, Ertuğrul Okuyan
Publikováno v:
Anatolian Journal of Cardiology, Vol 23, Iss 2, Pp 79-85 (2020)
Objective: Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism which arises due to deficient or absent activity of lysosomal α-galactosidase A (α-Gal A). This may be associated with increased left ventri
Externí odkaz:
https://doaj.org/article/a08af4bdcf6f4fd7a28bd1436110b96d
Autor:
Cansu Altuntaş, Tugce Aksu Uzunhan, Biray Ertürk, Mey Talip Petmezci, Nafiye Emel Çakar, Bilge Noyan, Ali İhsan Dokucu, Hasan Önal
Publikováno v:
Clinical Neurology and Neurosurgery. 229:107712
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8ef21b720493f42c3116d8fc07d3aec0
https://doi.org/10.1016/j.clineuro.2023.107712
https://doi.org/10.1016/j.clineuro.2023.107712
Autor:
Nafiye Emel Çakar, Pınar Yılmazbaş
Publikováno v:
Ideggyógyászati szemle. 74:67-72
Autism spectrum disorder is a neurodevelopmental disorder with a heterogeneous presentation, the etiology of which is not clearly elucidated. In recent years, comorbidity has become more evident with the increase in the frequency of autism and diagno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4536e9bd063389d0ca73d28cda58ba79
https://doi.org/10.18071/isz.74.0067
https://doi.org/10.18071/isz.74.0067
Autor:
Hasan Önal, Nafiye Emel Çakar
Publikováno v:
Ideggyógyászati szemle. 74:139-144
Background and purpose Niemann-Pick type C is a rare lysosomal storage disease caused by impaired intracellular cholesterol transport. The autosomal recessive disease is caused by mutations in NPC1 or NPC2 genes. Methods Clinical-laboratory features,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c4138e0ab03dc4e92775ce24a9579ba0
https://doi.org/10.18071/isz.74.0139
https://doi.org/10.18071/isz.74.0139
Autor:
Orhan Gorukmez, Nafiye Emel Çakar
Publikováno v:
Annals of Indian Academy of Neurology, Vol 24, Iss 3, Pp 372-378 (2021)
Annals of Indian Academy of Neurology
Annals of Indian Academy of Neurology
Objective 3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is a rare metabolic disease of valine metabolism. Only 22 cases of HIBCH deficiency have been reported in the literature. Our algorithm could help in the diagnosis of this disease. Method
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03e758f837243b1a776bbb6946db68ae
http://www.annalsofian.org/article.asp?issn=0972-2327
http://www.annalsofian.org/article.asp?issn=0972-2327
Publikováno v:
Brain and Development. 42:756-761
Background Genetic defects in the NFU1, an iron-sulfur cluster scaffold protein coding gene, which is vital in the final stage of assembly for iron sulfur proteins, have been defined as multiple mitochondrial dysfunctions syndrome I. This disorder is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f93a71d7768a70bd542af35c5b5ef3ea
https://doi.org/10.1016/j.braindev.2020.07.009
https://doi.org/10.1016/j.braindev.2020.07.009
Autor:
Nafiye Emel Çakar, Tuğçe Aksu Uzunhan
Publikováno v:
Brain and Development. 42:222-225
Background Canavan disease is a genetic neurodegenerative leukodystrophy that results in the spongy degeneration of the white matter. Its key clinical features in the infantile form are developmental delay, visual problems and macrocephaly. Congenita
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c6ab2848175d34f6b4daebebbdfbe6d8
https://doi.org/10.1016/j.braindev.2019.11.009
https://doi.org/10.1016/j.braindev.2019.11.009
Autor:
Nafiye Emel Çakar, Adem Atici, Mustafa Emir Tavşanlı, Sevgi Özcan, Caner Özgökçe, Ertugrul Okuyan, Mehmet Kucuk, Hasan Ali Barman, Irfan Sahin, Ahmet Öztürk, Ayşegül Ezgi Kafalı
Publikováno v:
Anatolian Journal of Cardiology, Vol 23, Iss 2, Pp 79-85 (2020)
Anatolian Journal of Cardiology
Anatolian Journal of Cardiology
Objective: Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism which arises due to deficient or absent activity of lysosomal α-galactosidase A (α-Gal A). This may be associated with increased left ventri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6fcc10b2d2bde42a2dcc7557817724f
https://jag.journalagent.com/z4/download_fulltext.asp?pdir=anatoljcardiol&un=AJC-84782
https://jag.journalagent.com/z4/download_fulltext.asp?pdir=anatoljcardiol&un=AJC-84782
Autor:
Saliha Çıracı, Gonca Bektaş, Büşra Kutlubay, Sevinç Kalın, Esra Şevketoğlu, Hatice Gülhan Sözen, Özge Yapıcı, Hülya Maraş Genç, Bülent Kara, Zeynep Gör, Tuğçe Aksu Uzunhan, Nafiye Emel Çakar, Figen Palabıyık
Objectives Cytotoxic lesions of the corpus callosum (CLOCCs) are secondary lesions associated with entities like infection manifested by restricted diffusion on diffusion-weighted cranial magnetic resonance imaging. Our objectives are to evaluate the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6837e6deb4ca46091a822f8cc2530cf
https://hdl.handle.net/11424/284271
https://hdl.handle.net/11424/284271
